A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438078



Internal ID15387889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114571877..114642655hg38UCSC Ensembl
Innerchr8:115584106..115654884hg19UCSC Ensembl
Innerchr8:115653282..115724060hg18UCSC Ensembl
Innerchr8:115540689..115611467hg16UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3870779
hg1970779
hg1870779
hg1670779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470038, nssv470036, nssv470039, nssv470035, nssv470040, nssv470037
SamplesNA18947, NA18956, NA18948, NA18636, NA18612
Known Genes
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
Null genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438078
Frequency
Sample Size269
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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